A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023193



Internal ID9997056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34402435..34508394hg38UCSC Ensembl
Innerchr15:34694636..34800595hg19UCSC Ensembl
Innerchr15:32481928..32587887hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38105960
hg19105960
hg18105960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760383
Supporting Variants
SamplesRW_0312
Known GenesGOLGA8A
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7023193
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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